A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3191225



Internal ID22341957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:44625436..44643064hg38UCSC Ensembl
Outerchr3:44666928..44684556hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3817629
hg1917629
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271118
SamplesHG00513
Known GenesZNF197
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3191225
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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